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Deafness-encephaloneuropathy-obesity-valvulopathy syndrome(COQ10D2)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Coenzyme Q10 deficiency, primary, 2; PDSS1-Related Coenzyme Q10 Deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Gene (location): PDSS1 (10p12.1)
Monarch Initiative: MONDO:0013837
OMIM®: 614651
Orphanet: ORPHA254898

Leonardo Salviati  |  Eva Trevisson  |  Caterina Agosto, et. al.   view full author information

Additional descriptions

From GeneReviews Overview
Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.
CoQ10 deficiency-2 (COQ10D2) is an autosomal recessive disorder characterized by sensorineural deafness, optic atrophy, mildly impaired intellectual development, muscular weakness, and cardiac involvement (summary by Nardecchia et al., 2021).  http://www.omim.org/entry/614651

Clinical features

From HPO
Aortic regurgitation
MedGen UID:
Concept ID:
Disease or Syndrome
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
Mitral regurgitation
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Pulmonary arterial hypertension
MedGen UID:
Concept ID:
Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
MedGen UID:
Concept ID:
Disease or Syndrome
Accumulation of substantial excess body fat.
MedGen UID:
Concept ID:
Increased body weight with a body mass index of 25-29.9 kg per square meter.
Hearing impairment
MedGen UID:
Concept ID:
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).
Intellectual disability, mild
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Peripheral neuropathy
MedGen UID:
Concept ID:
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
MedGen UID:
Concept ID:
Absence of neurologic reflexes such as the knee-jerk reaction.
MedGen UID:
Concept ID:
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Increased circulating lactate concentration
MedGen UID:
Concept ID:
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Elevated lactate:pyruvate ratio
MedGen UID:
Concept ID:
An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.
Livedo reticularis
MedGen UID:
Concept ID:
Disease or Syndrome
Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.
Optic atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness-encephaloneuropathy-obesity-valvulopathy syndrome
Follow this link to review classifications for Deafness-encephaloneuropathy-obesity-valvulopathy syndrome in Orphanet.

Professional guidelines


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Recent clinical studies


Giudice V, Selleri C
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Clinical prediction guides

Boßelmann CM
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Recent systematic reviews

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